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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma, Neeraj; Evans, Taylor A; Pellicore, Matthew J; Davis, Emily; Aksit, Melis A; McCague, Allison F; Joynt, Anya T; Lu, Zhongzhu; Han, Sangwoo T; Anzmann, Arianna F; Lam, Anh-Thu N; Thaxton, Abigail; West, Natalie; Merlo, Christian; Gottschalk, Laura B; Raraigh, Karen S; Sosnay, Patrick R; Cotton, Calvin U; Cutting, Garry R.
Affiliation
  • Sharma N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Evans TA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Pellicore MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Davis E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Aksit MA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • McCague AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Joynt AT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Lu Z; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Han ST; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Anzmann AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Lam AN; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Thaxton A; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • West N; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Merlo C; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Gottschalk LB; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Sosnay PR; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Cotton CU; Departments of Pediatrics, Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, United States of America.
  • Cutting GR; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
PLoS Genet ; 14(11): e1007723, 2018 11.
Article in En | MEDLINE | ID: mdl-30444886
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Genetic Heterogeneity / Codon, Nonsense / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Genetic Heterogeneity / Codon, Nonsense / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Document type: Article Affiliation country: United States Country of publication: United States